Neuronal Ceroid Lipofuscinosis Across Species: A Fatal Hereditary Neurodegenerative Disease

Abstract

Neuronal ceroid lipofuscinosis (NCL) is a rare, fatal inherited lysosomal storage disease characterised by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment in neurons and other body cells. It is caused by pathogenic mutations of genes. Currently there are 14 forms of NCL designated as CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN9, CLN10, CLN11, CLN12, CLN13, and CLN14. Defects in different genes are the basis of the various forms of NCL. This chapter provides a review of the current knowledge on NCL, particularly the aetiology, transmission, epidemiology, predisposing factors, clinical signs, diagnosis, differential diagnosis, control, and treatment of the disease. It also outlines some challenges or gaps in current NCL research, discusses the significance of research findings in the broader context of neurodegenerative diseases, and recommends the way forward towards control of NCL.